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[Role of deep seminal tract imaging in the diagnosis of unilateral agenesis of the vas deferens. Case report of a patient with CFTR gene mutation]. | LitMetric

AI Article Synopsis

  • - A 35-year-old man had primary infertility for 4 years, but clinical exams and semen tests were normal.
  • - Imaging revealed that he had a missing pelvic portion of the left vas deferens and issues with the corresponding seminal vesicle.
  • - Genetic testing showed he carried two CFTR gene mutations, leading the authors to suggest that men facing infertility should undergo urogenital imaging.

Article Abstract

The authors report the cases of a 35-year-old man with a 4-year history of primary infertility with normal clinical examination and semen parameters. Deep genital tract imaging demonstrated isolated unilateral agenesis of the pelvic portion of the left vas deferens associated with abnormalities of the homolateral seminal vesicle. Molecular analysis of the CFTR gene demonstrated composite heterozygosity with the presence of DeltaF508 / V938G mutations. In the light of this case, the authors recommend urogenital imaging for all men consulting for infertility.

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